نتایج جستجو برای: complex vertebral malformation

تعداد نتایج: 824614  

Journal: :American journal of epidemiology 1987
R J McCarter I I Kessler G W Comstock

The risk of major and minor congenital malformations was compared in the offspring of diabetic (n = 2,639) and nondiabetic (n = 2,144) women who delivered at the Johns Hopkins Hospital in Baltimore, Maryland, between January 1, 1946 and December 31, 1970. In spite of ample power, there was little evidence of an increased malformation risk in offspring born prior to the onset of overt diabetes i...

2015
A. Adorno C. Alafaci F. Sanfilippo D. Cafarella M. Scordino F. Granata G. Grasso F M Salpietro

INTRODUCTION Klippel-Feil syndrome is characterized by a congenital fusion of cervical vertebrae. Intracranial teratomas are nongerminomatous germ cell tumors and they account for 0.3 to 0.9% of all intracranial tumors. Teratomas with malignant transformation refer to lesions which give rise to malignant cancer of somatic type. The association between tumors of dermoid origin and Klippel-Feil m...

Journal: :AJNR. American journal of neuroradiology 1982
R I Grossman K R Davis J M Taveras

A 22-year-old right-handed man had a 5 year hi story of prog ressive right-sided weakn ess with loss of use of hand function. There was no history of headache or seizures. Physical examination disclosed increased tone and a Babinsk i sign on the right side. Optic pallor was noted in the left fundu s. A bilateral carotid arteriog ram and a left vertebral arteriog ram revealed a large intracrania...

Journal: :Genes & development 2008
Dorota Szumska Guido Pieles Rachid Essalmani Michal Bilski Daniel Mesnard Kulvinder Kaur Angela Franklyn Kamel El Omari Joanna Jefferis Jamie Bentham Jennifer M Taylor Jurgen E Schneider Sebastian J Arnold Paul Johnson Zuzanna Tymowska-Lalanne Dave Stammers Kieran Clarke Stefan Neubauer Andrew Morris Steve D Brown Charles Shaw-Smith Armando Cama Valeria Capra Jiannis Ragoussis Daniel Constam Nabil G Seidah Annik Prat Shoumo Bhattacharya

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound muta...

2017
Yuan Zhou Lin Zhu Yixing Lin Huilin Cheng

RATIONALE Chiari type I malformation (CM1) and occult tethered cord syndrome (OTCS) are considered to be malformations associated with subtle structural abnormalities of the terminal filum. Few studies have reported patients with CM1 and OTCS. Treatment strategy for patients of CM1 associated with OTCS is controversial. PATIENT CONCERNS A 14-year-old child was admitted with intermittent pain ...

2016
Karan Nehra B Jayan Shiv Shankar Agarwal Mukul Bhatia

Crouzon syndrome is an autosomal dominant, rare genetic disorder often demonstrating complete penetrance and variable expressivity. It is frequently associated with cervical vertebrae abnormalities which often remain undetected. This article reports the case of an incidental finding of cervical vertebral anomaly of atlanto-occipital assimilation in an 8.5 year old boy who reported with chief co...

2013
Suken A. Shah Kit Song

Congenital scoliosis is defined as a lateral deviation of the spine associated with one of a broad range of congenital vertebral malformations (CVMs) that can form during in utero development. It is distinct from other spinal deviations in which malformations do not occur and can present as an isolated spine anomaly or be associated with a large number of visceral organ and syndromic abnormalit...

2011
Brett Woodie

The etiology of a compressive spinal cord injury can occur secondary to developmental or acquired causes. In horses neurologic gait deficits have been recognized since 1860. In 1938 the term Wobblers syndrome was used to describe these gait abnormalities. There are many terms used to describe this syndrome such as cervical vertebral malformation, cervical vertebral instability, and cervical ver...

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